• Gene id: 25791

Gene Summary

• Gene Symbol: NGEF   Gene   UCSC   Ensembl
• Aliases: ARHGEF27, EPHEXIN
• Gene name: neuronal guanine nucleotide exchange factor
• Alternate names: ephexin-1, eph-interacting exchange protein, ephexin1,
• Gene location: 2q37.1 (233013255: 232878685)     Exons: 18     NC_000002.12
• OMIM: 607781

Protein Summary

• Protein general information: Q8N5V2  
  • Name: Ephexin 1 (Eph interacting exchange protein) (Neuronal guanine nucleotide exchange factor)
  • Length: 710  
  • Mass: 82496
  • Tissue specificity: Highly expressed in brain specifically in caudate nucleus and to a lower extent in amygdala and hippocampus. Also detected in lung. {ECO
• Sequence:

  METRESEDLEKTRRKSASDQWNTDNEPAKVKPELLPEKEETSQADQDIQDKEPHCHIPIKRNSIFNRSIRRKSKA
  KARDNPERNASCLADSQDNGKSVNEPLTLNIPWSRMPPCRTAMQTDPGAQEMSESSSTPGNGATPEEWPALADSP
  TTLTEALRMIHPIPADSWRNLIEQIGLLYQEYRDKSTLQEIETRRQQDAEIEDNTNGSPASEDTPEEEEEEEEEE
  EPASPPERKTLPQICLLSNPHSRFNLWQDLPEIRSSGVLEILQPEEIKLQEAMFELVTSEASYYKSLNLLVSHFM
  ENERIRKILHPSEAHILFSNVLDVLAVSERFLLELEHRMEENIVISDVCDIVYRYAADHFSVYITYVSNQTYQER
  TYKQLLQEKAAFRELIAQLELDPKCRGLPFSSFLILPFQRITRLKLLVQNILKRVEERSERECTALDAHKELEMV
  VKACNEGVRKMSRTEQMISIQKKMEFKIKSVPIISHSRWLLKQGELQQMSGPKTSRTLRTKKLFHEIYLFLFNDL
  LVICRQIPGDKYQVFDSAPRGLLRVEELEDQGQTLANVFILRLLENADDREATYMLKASSQSEMKRWMTSLAPNR
  RTKFVSFTSRLLDCPQVQCVHPYVAQQPDELTLELADILNILDKTDDGWIFGERLHDQERGWFPSSMTEEILNPK
  IRSQNLKECFRVHKMDDPQRSQNKDRRKLGSRNRQ

• Structural information:
  • Protein Domains: (273..45-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (489..60-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (612..67-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR035899  IPR000219  IPR035635  IPR011993  IPR001849   IPR036028  IPR001452  
  • Prosite: PS50010 PS50003 PS50002
  • CDD: cd00160 cd11939
  • STRING: ENSP00000264051
• Other Databases: GeneCards:  NGEF  Malacards:  NGEF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0061002	negative regulation of dendritic spine morphogenesis	ISS	biological process
GO:0048013	ephrin receptor signaling pathway	ISS	biological process
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	EXP	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray